Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

BACKGROUND: Retinal dystrophies (RD) are a group of hereditary diseases that lead to debilitating visual impairment and are usually transmitted as a Mendelian trait. Pathogenic mutations can occur in any of the 100 or more disease genes identified so far, making molecular diagnosis a rather laboriou...

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Detalles Bibliográficos
Autores principales: Corton, Marta, Nishiguchi, Koji M., Avila-Fernández, Almudena, Nikopoulos, Konstantinos, Riveiro-Alvarez, Rosa, Tatu, Sorina D., Ayuso, Carmen, Rivolta, Carlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3683009/
https://www.ncbi.nlm.nih.gov/pubmed/23940504
http://dx.doi.org/10.1371/journal.pone.0065574

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3683009/
https://www.ncbi.nlm.nih.gov/pubmed/23940504
http://dx.doi.org/10.1371/journal.pone.0065574

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